Article
Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.
PloS one - 1 Jan 2017
Franaszczyk Maria, Chmielewski Przemyslaw, Truszkowska Grazyna, Stawinski Piotr, Michalak Ewa, Rydzanicz Malgorzata, Sobieszczanska-Malek Malgorzata, Pollak Agnieszka, Szczygieł Justyna, Kosinska Joanna, Parulski Adam, Stoklosa Tomasz, Tarnowska Agnieszka, Machnicki Marcin M, Foss-Nieradko Bogna, Szperl Malgorzata, Sioma Agnieszka, Kusmierczyk Mariusz, Grzybowski Jacek, Zielinski Tomasz, Ploski Rafal, Bilinska Zofia T
Abstract excerpt
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDCM), and to look for genotype-phenotype correlations. Clinical cardiovascular data, family histories and blood samples were collected from 72 DCM probands, mean age of...
Topics
- Adult
- Cardiomyopathy, Dilated
- Cohort Studies
- Connectin
- Female
- Genetic Association Studies
- Heterozygote
- Humans
- Kaplan-Meier Estimate